Chromosomal micromatrix analysis prenatal
Chromosomal Microarray Analysis (CMA) is one of the most advanced methods of genetic diagnostics aimed at detecting structural abnormalities in the fetal chromosome set before birth.
Unlike conventional karyotyping, CMA can identify even the smallest genetic alterations, such as microdeletions and microduplications, which may go unnoticed using traditional methods.
This type of testing allows for the following:
- Detection of microdeletions and microduplications responsible for various inherited syndromes;
- Confirmation or clarification of findings suspected during ultrasound diagnostics;
- Comprehensive genetic assessment in cases of suspected congenital anomalies;
- Reduction of uncertainty in cases of high risk for inherited disorders.
Who Should Consider CMA?
- Pregnant women with abnormal findings on screening tests (ultrasound or biochemical);
- Patients with a family history of genetic disorders;
- In cases of recurrent pregnancy loss or stillbirth;
- When fetal structural anomalies are detected;
- After inconclusive results from other prenatal testing methods.
Key Advantages of CMA:
- Maximum accuracy - capable of detecting abnormalities that are not visible through conventional chromosomal diagnostics;
- Whole-genome assessment - provides a comprehensive analysis of all chromosomal regions;
- No cell culturing required - which significantly speeds up the testing process;
- Detection of rare syndromes - including 22q11.2 deletion syndrome, Williams syndrome, Prader-Willi syndrome, and others.
How Safe Is the Procedure?
The sample collection is performed in accordance with all established safety standards. Prior to the procedure, a consultation with a physician is required, during which the potential risks and benefits will be explained in detail.
Samples for Analysis:
Material is obtained through prenatal diagnostic procedures:
- Chorionic villus sampling
- Amniocentesis
- Cordocentesis
A microarray is prepared from the extracted DNA, which is then used for high-precision screening to detect losses or duplications of genetic material.